المؤلفون: Daniëlle G. M. Bosch, Nicole Corsten-Janssen, Colin A Ellis, Dirk Lefeber, Alfredo Brusco, Irene Bagnasco, Andrea Accogli, Ellen Macnamara, Carlo Di Bonaventura, Giovanna Zorzi, Scott Demarest, Erik A. Eklund, Noëlle Mercier, Carlo Marcelis, Rong Zhang, Ban H Edani, Camilo Toro, Ziv Gan-Or, Simone Pizzi, Kariona A. Grabińska, Nienke E. Verbeek, Karen W. Gripp, Simone Martinelli, Caterina Caputi, Luca Pannone, Marco Tartaglia, Felix Distelmaier, Louise Amlie-Wolf, Luisa Averdunk, Anne-Sophie Alaix, Renzo Guerrini, Laura Masuelli, Marwan Shinawi, Sunita Venkateswaran, Joseph Peeden, Hana Hansikova, Lucie Zdrazilova, William C. Sessa, Serena Galosi, Renske Oegema, Patricia G Wheeler, Kristin W. Barañano, Vincenzo Leuzzi, Frances Elmslie, Fadi F. Hamdan, Roberto Bei, Jean-Marc Good, Isis Atallah, Myriam Srour, Erik-Jan Kamsteeg

المصدر: Brain, 145, 1, pp. 208-223
Brain
Brain, 145(1), 208-223. Oxford University Press
Brain, vol. 145, no. 1, pp. 208-223
Brain, 145, 208-223

مصطلحات موضوعية: Myoclonus, Ataxia, Retinitis, Progressive myoclonus epilepsy, congenital disorders of glycosylation, dolichol, movement disorder, myoclonus epilepsy, neurodegenerative disorder, DHDDS, Biology, Settore MED/04, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], chemistry.chemical_compound, Neurodevelopmental disorder, Dolichol, Dolichols, Retinitis pigmentosa, medicine, Alkyl and Aryl Transferases, Child, Dolichols/metabolism, Humans, Neurodegenerative Diseases/genetics, Retinitis Pigmentosa/genetics, PROTEIN GLYCOSYLATION, MUTATION, NOGO-B RECEPTOR, CIS-PRENYLTRANSFERASE, Genetics, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Neurodegenerative Diseases, LOCALIZATION, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], OLIGOSACCHARIDES, INSIGHTS, chemistry, Neuronal ceroid lipofuscinosis, Original Article, Neurology (clinical), medicine.symptom, LIQUID-CHROMATOGRAPHY, Retinitis Pigmentosa, GENETIC-DEFECTS

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::012cb40531119a7d00e4415b8540c52c
https://research.rug.nl/en/publications/50de5bd9-24f7-4573-b0f2-fed69db9588d

المؤلفون: Kailash P. Bhatia, Patrick Haggard, Mark J. Edwards, Anne-Catherine M L Huys

المصدر: Brain

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, media_common.quotation_subject, Neurological disorder, Physical medicine and rehabilitation, functional neurological disorder, functional movement disorder, Distraction, Tremor, medicine, Humans, Contrast (vision), Functional movement disorder, Aged, media_common, Focus (computing), visual feedback, treatment, AcademicSubjects/SCI01870, Movement (music), Motor control, Original Articles, Middle Aged, medicine.disease, Action tremor, attention, Conversion Disorder, Female, AcademicSubjects/MED00310, Neurology (clinical), Psychology, Psychomotor Performance

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::277d718d175f37cc752e6cc9f75edef4
https://openaccess.sgul.ac.uk/id/eprint/113387/11/awab230.pdf

المؤلفون: Fabian Bumbak, Tobias B. Haack, Michael A. Cousin, Michelle D. Amaral, Ingo Borggraefe, Mari Rossi, Mohammed Al-Raqad, Stewart Boyd, Grazia M.S. Mancini, Zornitza Stark, Manju A. Kurian, Daniel Scott, Simon Sadedin, Tiong Yang Tan, Tess J. Jiang, Heike Weigand, Marcella Zollino, Orly Elpeleg, F Lucy Raymond, Yunyun Jiang, Whitley V. Kelley, Sara Ellingwood, David J. Owen, Martina Wilke, Holly Melland, Dawn Peck, Bradley J. Turner, Kate Baker, Giuseppe Marangi, Richard A. Gibbs, Sarah L. Gordon

المساهمون: Baker, Kate [0000-0003-2986-0584], Owen, David [0000-0002-8351-6322], Raymond, Lucy [0000-0003-2652-3355], Apollo - University of Cambridge Repository, Clinical Genetics

المصدر: Brain
Brain, 141, 2576-2591. Oxford University Press
Barker, K, Gordon, S, Melland, H, Bumbak, F, Scott, D J, Jiang, T, Owen, D, Turner, B, Boyd, S, Rossi, M, Al-Raqad, M, Elpeleg, O, Peck, D, Mancini, G, Wilke, M, Zollino, M, Marangi, G, Weigand, H, Borggraefe, I, Haack, T, Stark, Z, Sadedin, S, Tan, T, Jiang, Y, Gibbs, R, Ellingwood, S, Amaral, M, Kelley, W, Kurian, M & Cousin, M & Raymond, L 2018, ' SYT1-associated neurodevelopmental disorder : a case series ', Brain, vol. 141, no. 9, pp. 2576–2591 . https://doi.org/10.1093/brain/awy209

مصطلحات موضوعية: 0301 basic medicine, Male, Action Potentials, Settore MED/03 - GENETICA MEDICA, Synaptic Transmission, Neurotransmitter secretion, Mice, 0302 clinical medicine, Neurodevelopmental disorder, Child, Synaptic vesicle endocytosis, Neurons, Movement Disorders, biology, intellectual disability, movement disorder, synaptic vesicle, synaptotagmin 1, SYT1, Neurology (clinical), Endocytosis, 3. Good health, Child, Preschool, Synaptotagmin I, Female, Synaptic Vesicles, Adolescent, Mutation, Missense, Neurotransmission, Synaptic vesicle, 03 medical and health sciences, Young Adult, medicine, Animals, Humans, Original Articles, medicine.disease, Electrophysiological Phenomena, Rats, Mice, Inbred C57BL, 030104 developmental biology, nervous system, Neurodevelopmental Disorders, Synaptophysin, biology.protein, Calcium, Free nerve ending, Neuroscience, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8771b96148c4618e3849e8454c0f0428
http://hdl.handle.net/10807/134207

المؤلفون: Raymond C. Tervo, William E. MacLean, Adele F. Dimian, Frank J. Symons, Lisa Spofford, John Hoch

مصطلحات موضوعية: Male, Frequency of occurrence, Developmental Disabilities, Poison control, Stereotypic Movement Disorder, Motor behavior, Repetitive behavior, Developmental psychology, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, 030225 pediatrics, Intellectual disability, Injury prevention, Developmental and Educational Psychology, medicine, Prevalence, Humans, 0501 psychology and cognitive sciences, 05 social sciences, Human factors and ergonomics, Infant, Chronological age, medicine.disease, Cross-Sectional Studies, Case-Control Studies, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Psychology, Self-Injurious Behavior, 050104 developmental & child psychology, Regular Articles

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8e02bcb15b780f1500426b36e75a427
https://europepmc.org/articles/PMC4888109/

المؤلفون: Christian G. Widschwendter, W. Wolfgang Fleischhacker, Douglas Vanderburg, Onur N. Karayal, Georg Kemmler, Sheela Kolluri

المصدر: International Journal of Neuropsychopharmacology

مصطلحات موضوعية: Adult, medicine.medical_specialty, Adolescent, Barnes Akathisia Rating Scale, Akathisia, Placebo, Severity of Illness Index, Piperazines, Young Adult, Extrapyramidal symptoms, Double-Blind Method, Rating scale, Internal medicine, medicine, Haloperidol, movement disorder rating scales, Humans, Pharmacology (medical), Ziprasidone, Adverse effect, Simpson Angus Scale, Aged, Pharmacology, Middle Aged, medicine.disease, extrapyramidal adverse events, schizophrenia, Psychiatry and Mental health, Thiazoles, Schizophrenia, medicine.symptom, Psychology, Clinical psychology, medicine.drug, Research Article, Akathisia, Drug-Induced, Antipsychotic Agents

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7cb7b0bcf66d9b06b77ce62efe58346
http://europepmc.org/articles/PMC4675975

المؤلفون: Arthur S. Walters, Lunliya Thampratankul, Denise Sharon, Narong Simakajornboon

المصدر: Sleep and Movement Disorders

مصطلحات موضوعية: medicine.medical_specialty, Periodic limb movement disorder, Physical medicine and rehabilitation, business.industry, medicine, Restless legs syndrome, business, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6445ad06da3c0d7c446bb5f84502aa8f
https://doi.org/10.1093/med/9780199795161.003.0046

المؤلفون: Albert Adell, Tamara Romón, Xavier López-Gil, Laura Jiménez-Sánchez

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: Serotonin, Dopamine, Glutamate decarboxylase, Glutamic Acid, Phencyclidine, Rodentia, Receptors, N-Methyl-D-Aspartate, Corpus Callosum, mental disorders, medicine, Animals, Humans, Ketamine, Receptor, Serotonin, 5-HT2A, Construct validity, medicine.disease, Special Features, Stereotypic movement disorder, Psychiatry and Mental health, Disease Models, Animal, Parvalbumins, Schizophrenia, NMDA receptor, Psychology, Neuroscience, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ab90891e20d805ceb6e58e174fb2262
https://europepmc.org/articles/PMC3245580/

المؤلفون: Giuseppe Plazzi, Francesca Poli, Oliviero Bruni, Ling Lin, Yves Dauvilliers, Mark J. Edwards, Lino Nobili, Kailash P. Bhatia, Fabio Pizza, Christian Franceschini, Vincenzo Palaia, Emmanuel Mignot, Pietro Cortelli, Keivan Kaveh Moghadam

المساهمون: Plazzi G., Pizza F., Palaia V., Franceschini C., Poli F., Moghadam K.K., Cortelli P., Nobili L., Bruni O., Dauvilliers Y., Lin L., Edwards M.J., Mignot E., Bhatia K.P.

المصدر: Brain

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Movement disorders, Cataplexy, Adolescent, Neurological examination, medicine, streptococcal infection, Humans, chorea, Restless legs syndrome, movement disorder, narcolepsy with cataplexy, hypotonia, Prospective Studies, Child, Preschool, Narcolepsy, Dystonia, Movement Disorders, medicine.diagnostic_test, Original Articles, Child, Preschool, Female, Neurology (clinical), medicine.disease, Hypotonia, medicine.symptom, Psychology, Neuroscience, Sleep paralysis

وصف الملف: application/pdf; ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8703aceb48310fdeb736d66143f078fd
http://hdl.handle.net/11567/928594

المؤلفون: Sharon Muzerengi, K. Ray Chaudhuri

المصدر: Restless Legs Syndrome

مصطلحات موضوعية: Periodic limb movement disorder, medicine.medical_specialty, Physical medicine and rehabilitation, business.industry, medicine, Restless legs syndrome, medicine.disease, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b501ca4867266aee78d57d390b44a329
https://doi.org/10.1093/med/9780199234882.003.0007